人 CASR (NM_000388) cDNA克隆

Accession: NM_000388
基因名称: CASR
基因别名: CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; GPRC2A; HYPOC1
基因描述: Homo sapiens calcium-sensing receptor (CASR), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3237 (查看编码区序列)
翻译后氨基酸长度: 1078 (查看氨基酸序列)
Transcript Variant: This variant (2) has an alternate 5' UTR exon and lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) is shorter and lacks an internal segment, as compared to isoform 1.
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G122414 人 CASR (NM_000388) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]